Identity
HGNC
LOCATION
3q13.2
LOCUSID
ALIAS
SPGF20,WDR52
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 55779
MIM: 617559
HGNC: 25631
Ensembl: ENSG00000206530
Variants:
dbSNP: 55779
ClinVar: 55779
TCGA: ENSG00000206530
COSMIC: CFAP44
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA133950441 | hmg coa reductase inhibitors | Chemical | ClinicalAnnotation | associated | PD | 25602530 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 29277146 | 2019 | Novel Mutations in CFAP44 and CFAP43 Cause Multiple Morphological Abnormalities of the Sperm Flagella (MMAF). | 9 |
| 30904354 | 2019 | NovelCFAP43 andCFAP44 mutations cause male infertility with multiple morphological abnormalities of the sperm flagella (MMAF). | 14 |
| 29277146 | 2019 | Novel Mutations in CFAP44 and CFAP43 Cause Multiple Morphological Abnormalities of the Sperm Flagella (MMAF). | 9 |
| 30904354 | 2019 | NovelCFAP43 andCFAP44 mutations cause male infertility with multiple morphological abnormalities of the sperm flagella (MMAF). | 14 |
| 29449551 | 2018 | Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human. | 83 |
| 29449551 | 2018 | Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human. | 83 |
| 28552195 | 2017 | Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella. | 110 |
| 28552195 | 2017 | Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella. | 110 |
| 25602530 | 2015 | The rs13064411 polymorphism in the WDR52 gene, associated with PCSK9 levels, modifies statin-induced changes in serum total and LDL cholesterol levels. | 3 |
| 25602530 | 2015 | The rs13064411 polymorphism in the WDR52 gene, associated with PCSK9 levels, modifies statin-induced changes in serum total and LDL cholesterol levels. | 3 |
Citation
Dessen P
CFAP44 (cilia and flagella associated protein 44)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/61756/cfap44-(cilia-and-flagella-associated-protein-44)
